Paget Disease

Definition

Paget disease is a bone condition that
results in enlarged and deformed bones. It is a
long-term
condition. Any bone in the body can be affected. However, the most common sites are the spine, skull, pelvis, thighs, and lower legs.

Causes

Paget disease is caused by a malfunction in bone formation. Normally, bones are constantly being broken down and rebuilt. With Paget disease, bones are broken down abnormally fast, and new bone replacement is loose and bulky, instead of strong and compact. These poorly formed bones may become weak. They also may bend over time.

The exact cause of this bone malformation is unknown. About one third of cases are genetic, due to a gene mutation. Paget disease may be triggered early in life by a viral infection.

Risk Factors

Paget's disease is more common in people of Northern European descent and those who are 55 years of age and older.

Other factors that may increase your risk of Paget's disease include:

Having a family history, especially in a parent, sibling, or child

Having a specific gene called SQSTM1

Smoking

Symptoms

Most people with Paget disease don't have symptoms. For those with symptoms, Paget disease may cause:

Chronic bone pain, especially in the legs, hips, or spine

Swelling or deformity of bones in the limbs

Broken bones

Bowing of a limb

Pain or loss of sensation from pressure on nerves

Paget disease that involves the skull may cause:

Increased head size

Headaches

Facial pain

Hearing loss

Paget disease doesn't spread to other bones, but the symptoms do get worse over time. It may also be associated with arthritis, heart disease, kidney stones, loose teeth, and nervous system problems.

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done. Your doctor will order blood tests.

Imaging tests take pictures of internal body structures. These are done with:

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.